Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank.

doi:10.1016/j.ajhg.2025.07.017

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Phenome-wide association study of male and female sex chromosome trisomies in 1.5 million participants of MVP, FinnGen, and UK Biobank.

American journal of human genetics - 4 Sept 2025

Davis Shanlee M, Liu Aoxing, Teerlink Craig C, Lapato Dana M, Gorman Bryan, Genovese Giulio, Singh Madhurbain, Reeve Mary P, Gentry Amanda E, Donner Kati M, Sipilä Timo P, Ghazal Awaisa, Pagadala Meghana S, Panizzon Matthew S, Lancaster Eva E, Chatzinakos Chris, Ganna Andrea, Bigdeli Tim B, Daly Mark J, Lynch Julie A, Ross Judith, Peterson Roseann E, Hauger Richard L

Abstract excerpt

Sex chromosome trisomies (SCTs) are the most common whole-chromosome aneuploidy in humans. Yet, our understanding of the prevalence and associated health outcomes is largely driven by observational studies of clinically diagnosed individuals, resulting in a disproportionate focus on 47,XXY and associated hypogonadism. We analyzed microarray intensity data of sex chromosomes for 1.5 million individuals enrolled in...

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PMID: 40840450
DOI: 10.1016/j.ajhg.2025.07.017
PMCID: PMC12461006

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